JAK2, CALR, and MPL Mutations in Egyptian Patients With Classic Philadelphia-negative Myeloproliferative Neoplasms

• Published in: Clinical lymphoma, myeloma and leukemia Vol. 20; no. 10; pp. e645 - e651
• Main Authors: Soliman, Eman A., El-Ghlban, Samah, El-Aziz, Sherin Abd, Abdelaleem, Abdelaleem, Shamaa, Sameh, Abdel-Ghaffar, Hassan
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.10.2020
• Subjects: CALR; Essential thrombocytosis; JAK2; Polycythemia vera; Primary myelofibrosis; Polycythemia vera; Primary myelofibrosis; CALR; JAK2; Essential thrombocytosis
• ISSN: 2152-2650; 2152-2669
• DOI: 10.1016/j.clml.2020.05.011

Genetic mutations have been proven to be one of the major criteria in the diagnosis and distinction of different myeloproliferative neoplasm (MPN) subtypes. Therefore, the aim of this study was to determine the molecular profile of Egyptian patients with MPN subtypes and correlate with clinicopathological status. A series of 200 patients with MPNs (92 polycythemia vera, 68 essential thrombocythemia, and 40 primary myelofibrosis) were included in this study. DNA from each sample was amplified using polymerase chain reaction to detect Janus kinase 2 (JAK2), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) mutations. Sanger sequencing was used to determine the mutation types. Of the 200 samples, 44% had JAK2V617F and 10% were carrying CALR mutation with type 2 being the most frequent type in this study (55%). No MPL or JAK2 exon 12 mutations were detected. All clinical and hematological data had no differences with other populations except that our CALR-positive patients showed a decrease in the platelet count compared with JAK2V617F-positive patients. Our study on Egyptian patients shows a specific molecular profile of JAK2 mutation, and CALR mutation type 2 was higher than type 1. Genetic mutations are major criteria in myeloproliferative neoplasm (MPN) diagnosis, so we studied the molecular profile of 200 Egyptians with MPNs; 44% had Janus kinase 2 (JAK2)V617F and 10% had calreticulin (CALR), with type 2 being the most frequent (55%). CALR-positive showed a low platelet count compared with JAK2V617F-positive. These findings show a specific molecular profile of JAK2 mutation and CALR mutation.